Page 54 - Read Online
P. 54

Page 112                                             Marti et al. J Transl Genet Genom 2020;4:104-13  I  http://dx.doi.org/10.20517/jtgg.2020.10

                   disability. Intellect Dev Disabil 2016;54:381-90.
               6.   Dalsgaard S, Thorsteinsson E, Trabjerg BB, Schullehner J, Plana-Ripoll O, et al. Incidence rates and cumulative incidences of the full
                   spectrum of diagnosed mental disorders in childhood and adolescence. JAMA Psychiatry 2019;77:155-64.
               7.   Boyle CA, Boulet S, Schieve LA, Cohen RA, Blumberg SJ, et al. Trends in the prevalence of developmental disabilities in US children,
                   1997-2008. Pediatrics 2011;127:1034-42.
               8.   Van Naarden Braun K, Christensen D, Doernberg N, Schieve L, Rice C, et al. Trends in the prevalence of autism spectrum disorder,
                   cerebral palsy, hearing loss, intellectual disability, and vision impairment, metropolitan atlanta, 1991-2010. PLoS One 2015;10:e0124120.
               9.   Willemsen MH, Kleefstra T. Genetic diagnostics in intellectual disability: what is the benefit? Ned Tijdschr Geneeskd 2014;158:A8098.
               10.  Blesson A, Cohen JS. Genetic counseling in neurodevelopmental disorders. Cold Spring Harb Perspect Med 2020;10:a036533.
               11.  Posthuma D, Polderman TJ. What have we learned from recent twin studies about the etiology of neurodevelopmental disorders? Curr
                   Opin Neurol 2013;26:111-21.
               12.  Shendure J, Findlay GM, Snyder MW. Genomic medicine-progress, pitfalls, and promise. Cell 2019;177:45-57.
               13.  Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, et al. Chromosomal microarray testing influences medical management. Genet
                   Med 2011;13:770-6.
               14.  Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, et al. The contribution of de novo coding mutations to autism spectrum
                   disorder. Nature 2014;515:216-21.
               15.  Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al. Consensus statement: chromosomal microarray is a first-tier clinical
                   diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.
               16.  de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, et al. Diagnostic exome sequencing in persons with severe intellectual
                   disability. N Engl J Med 2012;367:1921-9.
               17.  Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, et al. Genome sequencing identifies major causes of severe
                   intellectual disability. Nature 2014;511:344-7.
               18.  Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, et al. Clinical exome sequencing for genetic identification of rare Mendelian
                   disorders. JAMA 2014;312:1880-7.
               19.  Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes
                   with autism and developmental-disability biases. Nat Genet 2017;49:515-26.
               20.  Jiang YH, Yuen RK, Jin X, Wang M, Chen N, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by
                   whole-genome sequencing. Am J Hum Genet 2013;93:249-63.
               21.  Johns Hopkins University. OMIM  - Online Mendelian Inheritance in Man . Available from: https://www.omim.org/search/?index=entry
                                        ®
                                                                  ®
                   &search=intellectual+disability&sort=chromosome_number+asc%2C+chromosome_sort+asc&start=1&limit=100&retrieve=geneMap&
                   gm_exists=true [Last accessed on 17 Apr 2020].
               22.  Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, et al. Systematic phenomics analysis deconvolutes genes mutated in intellectual
                   disability into biologically coherent modules. Am J Hum Genet 2016;98:149-64.
               23.  Richards S, Aziz N, Bale S, Bick D, Das S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus
                   recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med
                   2015;17:405-24.
               24.  Chen C, Chen D, Xue H, Liu X, Zhang T, et al. IDGenetics: a comprehensive database for genes and mutations of intellectual disability
                   related disorders. Neurosci Lett 2018;685:96-101.
               25.  Morrow EM. Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry
                   2010;49:1091-104.
               26.  Cellular and animal models in human genomics research. In: Walz K, Young JI, editors. Translational and applied genomics series. San
                   Diego: Elsevier/Academic Press; 2019. pp. 1-226.
               27.  Vey G. Metagenomic guilt by association: an operonic perspective. PLoS One 2013;8:e71484.
               28.  Verma V, Paul A, Amrapali Vishwanath A, Vaidya B, Clement JP. Understanding intellectual disability and autism spectrum disorders
                   from common mouse models: synapses to behaviour. Open Biol 2019;9:180265.
               29.  Canales CP, Walz K. The mouse, a model organism for biomedical research. In: Walz K, Young JI, editors. Cellular and animal models in
                   human genomics research. Translational and Applied Genomics Series. San Diego: Elsevier/Academic Press; 2019. pp. 119-40.
               30.  Giaever G, Chu AM, Ni L, Connelly C, Riles L, et al. Functional profiling of the Saccharomyces cerevisiae genome. Nature
                   2002;418:387-91.
               31.  Kim DU, Hayles J, Kim D, Wood V, Park HO, et al. Analysis of a genome-wide set of gene deletions in the fission yeast
                   Schizosaccharomyces pombe. Nat Biotechnol 2010;28:617-23.
               32.  Baba T, Ara T, Hasegawa M, Takai Y, Okumura Y, et al. Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants:
                   the Keio collection. Mol Syst Biol 2006;2:2006.0008.
               33.  Kamath RS, Fraser AG, Dong Y, Poulin G, Durbin R, et al. Systematic functional analysis of the Caenorhabditis elegans genome using
                   RNAi. Nature 2003;421:231-7.
               34.  Dietzl G, Chen D, Schnorrer F, Su KC, Barinova Y, et al. A genome-wide transgenic RNAi library for conditional gene inactivation in
                   Drosophila. Nature 2007;448:151-6.
               35.  Lepanto P, Zolesi FR, Badano JL. Studying human genetic variation in zebrafish. In: Walz K, Young JI, editors. Cellular and animal
                   models in human genomics research. Translational and Applied Genomics Series. In: Anonymous San Diego: Elsevier/Academic Press;
                   2019. pp. 89-117.
               36.  Rice AM, McLysaght A. Dosage sensitivity is a major determinant of human copy number variant pathogenicity. Nat Commun
                   2017;8:14366.
   49   50   51   52   53   54   55   56   57   58   59